Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients.

ABSTRACT:

Background

Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients.

Methods

A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations. The topical arm tested 0.1% gentamicin ointment or placebo application 3 times daily at 2 open erosion sites for 2 weeks. The intradermal arm tested daily intradermal inje

SUBMITTER: Woodley DT 

PROVIDER: S-EPMC5531396 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature